Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Autor:	Ramos EM; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., Dokuru DR; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., Van Berlo V; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., Wojta K; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., Wang Q; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., Huang AY; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., Deverasetty S; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., Qin Y; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California., van Blitterswijk M; Mayo Clinic, Jacksonville, Florida., Jackson J; Mayo Clinic, Jacksonville, Florida., Appleby B; Case Western Reserve University, Cleveland, Ohio., Bordelon Y; University of California Los Angeles, Los Angeles, California., Brannelly P; Tau Consortium, Rainwater Charitable Foundation, Fort Worth, Texas., Brushaber DE; Mayo Clinic, Rochester, Minnesota., Dickerson B; Harvard University/MGH, Boston, Massachusetts., Dickinson S; Association for Frontotemporal Degeneration, Radnor, Pennsylvania., Domoto-Reilly K; University of Washington, Seattle, Washington., Faber K; National Centralized Repository for Alzheimer's Disease and Related Dementia (NCRAD), Indiana University, Indianapolis, Indiana., Fields J; Mayo Clinic, Rochester, Minnesota., Fong J; University of California, San Francisco, San Francisco, California., Foroud T; National Centralized Repository for Alzheimer's Disease and Related Dementia (NCRAD), Indiana University, Indianapolis, Indiana., Forsberg LK; Mayo Clinic, Rochester, Minnesota., Gavrilova R; Mayo Clinic, Rochester, Minnesota., Ghoshal N; Washington University, St. Louis, Missouri., Goldman J; Columbia University, New York, New York., Graff-Radford J; Mayo Clinic, Rochester, Minnesota., Graff-Radford N; Mayo Clinic, Jacksonville, Florida., Grant I; Northwestern University, Chicago, Illinois., Grossman M; University of Pennsylvania, Philadelphia, Pennsylvania., Heuer HW; University of California, San Francisco, San Francisco, California., Hsiung GR; University of British Columbia, Vancouver, British Columbia, Canada., Huey E; Columbia University, New York, New York., Irwin D; University of Pennsylvania, Philadelphia, Pennsylvania., Kantarci K; Mayo Clinic, Rochester, Minnesota., Karydas A; University of California, San Francisco, San Francisco, California., Kaufer D; University of North Carolina, Chapel Hill, North Carolina., Kerwin D; University of Texas Southwestern Medical Center, Dallas, Texas., Knopman D; Mayo Clinic, Rochester, Minnesota., Kornak J; University of California, San Francisco, San Francisco, California., Kramer JH; University of California, San Francisco, San Francisco, California., Kremers W; Mayo Clinic, Rochester, Minnesota., Kukull W; National Alzheimer Coordinating Center (NACC), University of Washington, Seattle, Washington., Litvan I; University of California, San Diego, San Diego, California., Ljubenkov P; University of California, San Francisco, San Francisco, California., Lungu C; National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, Maryland., Mackenzie I; University of British Columbia, Vancouver, British Columbia, Canada., Mendez MF; University of California Los Angeles, Los Angeles, California., Miller BL; University of California, San Francisco, San Francisco, California., Onyike C; Johns Hopkins University, Baltimore, Maryland., Pantelyat A; Johns Hopkins University, Baltimore, Maryland., Pearlman R; Bluefield Project, San Francisco, California., Petrucelli L; Mayo Clinic, Jacksonville, Florida., Potter M; National Centralized Repository for Alzheimer's Disease and Related Dementia (NCRAD), Indiana University, Indianapolis, Indiana., Rankin KP; University of California, San Francisco, San Francisco, California., Rascovsky K; University of Pennsylvania, Philadelphia, Pennsylvania., Roberson ED; University of Alabama at Birmingham, Birmingham, Alabama., Rogalski E; Northwestern University, Chicago, Illinois., Shaw L; University of Pennsylvania, Philadelphia, Pennsylvania., Syrjanen J; Mayo Clinic, Rochester, Minnesota., Tartaglia MC; University of Toronto, Toronto, Ontario, Canada., Tatton N; Association for Frontotemporal Degeneration, Radnor, Pennsylvania., Taylor J; University of California, San Francisco, San Francisco, California., Toga A; Laboratory of Neuroimaging (LONI), USC, Los Angeles, California., Trojanowski JQ; University of Pennsylvania, Philadelphia, Pennsylvania., Weintraub S; Northwestern University, Chicago, Illinois., Wong B; Harvard University/MGH, Boston, Massachusetts., Wszolek Z; Mayo Clinic, Jacksonville, Florida., Rademakers R; Mayo Clinic, Jacksonville, Florida., Boeve BF; Mayo Clinic, Rochester, Minnesota., Rosen HJ; University of California, San Francisco, San Francisco, California., Boxer AL; University of California, San Francisco, San Francisco, California., Coppola G; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Jazyk:	angličtina
Zdroj:	Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2020 Jan; Vol. 16 (1), pp. 118-130.
DOI:	10.1002/alz.12011
Abstrakt:	Introduction: The Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic and familial frontotemporal dementia (FTD) participants and study longitudinal changes. Methods: We screened the major dementia-associated genes in 302 sporadic and 390 familial (symptomatic or at-risk) participants enrolled in these studies. Results: Among the sporadic patients, 16 (5.3%) carried chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) pathogenic variants, whereas in the familial series we identified 207 carriers from 146 families. Of interest, one patient was found to carry a homozygous C9orf72 expansion, while another carried both a C9orf72 expansion and a GRN pathogenic variant. We also identified likely pathogenic variants in the TAR DNA binding protein (TARDBP), presenilin 1 (PSEN1), and valosin containing protein (VCP) genes, and a subset of variants of unknown significance in other rare FTD genes. Discussion: Our study reports the genetic characterization of a large FTD series and supports an unbiased sequencing screen, irrespective of clinical presentation or family history. (© 2020 the Alzheimer's Association.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu